Digital Clubbing Research Articles

Anaesthetic Management for Caesarian Section Complicated with Eisenmenger Syndrome Concomitant Severe Preeclampsia: A Case Report

Background: Although conception is discouraged in women with Eisenmenger syndrome, in inevitable circumstances, careful and meticulous planning of anesthesia can help the parturient survive the ordeal of a cesarean section. Anaesthetic management is aimed at avoiding haemodynamic changes that increase right-to-left shunt, thereby worsening hypoxemia. This study aimed to present a case of a pregnant woman with Eisenmenger syndrome who underwent caesarean section under general anesthesia management with severe preeclampsia.
 Case presentation: A 42-year-old pregnant woman (gravida 3, para 1, abortion 1) was admitted to our hospital at 38 weeks gestation with the chief complaint of shortness of breath and severe preeclampsia. Physical examination revealed cyanotic with clubbing fingers and elevated jugular venous pressure. Laboratory investigations did not reveal any abnormalities. Electrocardiography (ECG) shows normal sinus rhythm and right atrial deviation. General anesthesia was chosen due to obstetric complications, namely severe preeclampsia. The patient was premedicated with a gastroprotective agent, ranitidine 150 mg. At follow-up anesthesia 36 hours after surgery, the patient scored for maximum perioperative comfort and satisfaction.
 Conclusion: A multidisciplinary approach is needed to secure maternal and fetal survival for patients with Eisenmenger syndrome. Termination of Caesarean section under general anaesthesia may be the method of delivery that can be used, but care must be taken to avoid excessive and rapid blockade, dehydration, and hypoxaemia.

Isolated hypoplastic right ventricle – a challenge in medical practice

Isolated right ventricle hypoplasia (IRVH) is a disease characterized by an underdeveloped right ventricle. It is a congenital heart disease than can associate heterogeneous structural defects and nonspecific clinical features, which can often present a challenging therapeutic management. In this article, there are presented diagnostic methods and treatment options for right ventricle hypoplasia (RVH) according to clinical features, patients age and associated structural heart defects. RVH has a different prognosis in accordance with the severity of the heart defects and the patient's age at which the diagnosis is established. Thus, isolated forms of RVH generally present mild structural and functional defects that can be associated with the onset of symptoms in adolescence or even in adulthood. In these cases, atrial septal defect closure with or without superior cavo-pulmonary anastomosis can be the only procedures needed to correct the hemodynamic abnormalities and relief the symptomatology. Patients with severe form of RVH associated with complex cardiac malformations and onset of the symptoms in the neonatal period require prompt intervention and necessitate palliative procedures. In the long term, these patients could need multiple reinterventions. The family physician should be aware of the cardiac origin of isolated symptoms or clinical signs, such as exertional dyspnea or clubbing fingers, and send the patient for pediatric cardiological evaluation.

ПРЕДИКТОРЫ ТЯЖЕЛОГО ТЕЧЕНИЯ И ОЦЕНКА ЭФФЕКТИВНОСТИ СТУПЕНЧАТОЙ КОМПЛЕКСНОЙ КОНСЕРВАТИВНОЙ ТЕРАПИИ БРОНХОЭКТАЗОВ, НЕ СВЯЗАННЫХ С МУКОВИСЦИДОЗОМ, У ДЕТЕЙ

The purpose of the study was to determine the predictors of severe bronchiectasis (BE) not associated with cystic fibrosis (CF) in children and to evaluate the effectiveness of a stepwise complex conservative therapy. Materials and methods of the study: study design - multicenter cohort prospective pilot study. 67 hospitalized pediatric patients aged from 11 months up to 17 years old (52% boys and 48% girls) with BE caused by previous pneumonia (22%), primary ciliary dyskinesia (22%), bronchial asthma (13%), Williams-Campbell syndrome (7%), bronchial foreign bodies (7%), gastroesophageal reflux disease (6%), bronchopulmonary dysplasia (6%), postinfectious bronchiolitis obliterans (5%), allergic bronchopulmonary aspergillosis (3%), chronic granulomatous disease (3%), AIDS (1%), protracted bacterial bronchitis (1%), and brain-lung-thyroid syndrome (1%) were observed. Predictors of severe BE were determined based on a comparison of groups of patients with mild (up to 4 exacerbations of BE per year) and moderate (from 4 to 6 exacerbations) course of BE (n=31) and patients with severe course of BE (>6 exacerbations per year, n=36). At the second stage of the study, in patients with changes in the severity of the course of BE, who were followed in dynamics (n=42), the frequency of exacerbations was assessed during the year after the appointment of a stepwise complex conservative therapy, which included, depending on the severity, daily drainage massage, exercise therapy, auxiliary devices for the respiratory tract clearance, long-term anti-inflammatory azithromycin, inhaled/intravenous antibiotics, and/or respiratory support. Results: the clinical picture of severe BE occurring with >6 exacerbations per year compared with mild/moderate course of the disease (≤6 exacerbations per year) is characterized by a statistically significantly more frequent registration of dyspnea (86% and 45%, p<0.001), exercise intolerance (69% and 39%, p=0.012), wet rales (89% and 61%, p=0.011), finger clubbing (17% and 0%, p=0.027). The prognostic model for determining the likelihood of severe BE not associated with CF in children includes the age of manifestation, a positive result of bacteriological examination of sputum/aspirates from the respiratory tract, localization of BE in the middle lobe of the right lung and/or lingual segments, and dyspnea. The appointment of gradual conservative therapy for BE, depending on the severity/frequency of exacerbations, makes it possible to statistically significantly reduce the severity of BE (p<0.001) and the median of exacerbations during the year from 9.00 [3.25-12.00] before treatment to 2.00 [1.00-3.00] after treatment (p<0.001). Conclusion: BEs are heterogeneous in severity, which determines the choice of therapy. Conservative therapy of BE not associated with CF in children has a stepwise principle depending on the severity of the course. Its appointment could therefore reduce the frequency of exacerbations.

Impact of highly effective CFTR modulator therapy on digital clubbing in patients with cystic fibrosis

BackgroundThe association of certain disease processes with digital clubbing is well documented. Digital clubbing is often reversible after successful treatment of the underlying pathology, for example, after lung transplantation in patients with cystic fibrosis (CF). We examined the effect of highly effective Cystic Fibrosis Transmembrane Regulator (CFTR) modulators, defined for the purposes of this study as ivacaftor or the combination of ivacaftor, tezacaftor, and elexacaftor (ETI), on digital clubbing. Materials and MethodsClubbing index was measured on plaster of Paris casts of right index fingers obtained from 15 patients with cystic fibrosis, before and after initiation of CFTR modulator therapy. Similar measurements were made on casts for 9 cystic fibrosis patients who underwent lung transplantation. Measurements were made on the most recent casts available before treatment and the first cast available at least 3 months after initiation of treatment. The Wilcoxon signed-rank text was used to detect any significant difference in the pre- and post-treatment casts for each individual. ResultsA significant decrease in the clubbing index was found after both lung transplantation and treatment with highly effective CFTR modulator therapy. ConclusionsThese results add to the body of evidence demonstrating the efficacy of highly effective CFTR modulator therapy, the first agents that act directly at the dysfunctional chloride channel responsible for CF. By demonstrating that CFTR modulator therapy is capable of reversing digital clubbing, this study suggests a beneficial effect on lung pathology aside from air flow and gas transfer.

Prognostic Predictive Characteristics in Patients With Fibrosing Interstitial Lung Disease: A Retrospective Cohort Study.

Background: Limited data are available regarding the entire spectrum of interstitial lung disease with a progressive fibrosing feature. We investigated the prevalence and prognostic predictive characteristics in patients with PF-ILD. Methods: This retrospective cohort study included patients with fibrosing ILD who were investigated between 1 January 2015 and 30 April 2021. We recorded clinical features and outcomes to identify the possible risk factors for fibrosing progression as well as mortality. Results: Of the 579 patients with fibrosing ILD, 227 (39.21%) met the criteria for progression. Clubbing of fingers [odds ratio (OR) 1.52, 95% confidence interval (CI) 1.03 to 2.24, p = 0.035] and a high-resolution computed tomography (HRCT)-documented usual interstitial pneumonia (UIP)-like fibrotic pattern (OR 1.95, 95% CI 1.33 to 2.86, p = 0.001) were risk factors for fibrosis progression. The mortality was worse in patients with PF with hypoxemia [hazard ratio (HR) 2.08, 95% CI 1.31 to 3.32, p = 0.002], in those with baseline diffusion capacity of the lung for carbon monoxide (DLCO) % predicted <50% (HR 2.25, 95% CI 1.45 to 3.50, p < 0.001), or in those with UIP-like fibrotic pattern (HR 1.68, 95% CI 1.04 to 2.71, p < 0.001). Conclusion: Clubbing of fingers and an HRCT-documented UIP-like fibrotic pattern were more likely to be associated with progressive fibrosing with varied prevalence based on the specific diagnosis. Among patients with progressive fibrosing, those with hypoxemia, lower baseline DLCO% predicted, or UIP-like fibrotic pattern showed poor mortality.

Scalp "Petals" Sign in Touraine-Solente-Gole Syndrome.

HomeRadiologyVol. 305, No. 1 PreviousNext Reviews and CommentaryFree AccessImages in RadiologyScalp “Petals” Sign in Touraine-Solente-Gole SyndromeQiancheng Wang* , Lizhang Chen*Qiancheng Wang* , Lizhang Chen*Author AffiliationsFrom the Department of Neurology, North-Kuanren General Hospital, Chongqing, China (Q.W.); and Department of Neurology, West China Hospital, Sichuan University, Chengdu, China (L.C.).Address correspondence to Q.W. (email: [email protected]).Qiancheng Wang* Lizhang Chen*Published Online:Jun 21 2022https://doi.org/10.1148/radiol.213027MoreSectionsPDF ToolsImage ViewerAdd to favoritesCiteTrack CitationsPermissionsReprints ShareShare onFacebookTwitterLinked In * Q.W. and L.C. contributed equally to this work.An 18-year-old man presented with a 2-year history of progressive worsening of scalp folds. He also complained of recurring acne, hyperhidrosis, and seborrhea. A physical examination revealed pachydermia (thickening and wrinkling of the skin of the scalp and face), digital clubbing, and gynecomastia. Brain MRI scan showed scalp hypertrophy (Figure, A), which resembled petals. Radiography of both the legs showed periostitis (Figure, B). On the basis of these clinical and radiologic findings, Touraine-Solente-Gole syndrome was diagnosed. Genetic testing showed compound heterozygous mutations in the SLCO2A1 gene. Other secondary causes (eg, chronic hypoxia, inflammation, infections, or cancers) were excluded. After daily treatment with 200 mg of celecoxib, the patient’s acne and hyperhidrosis resolved.Images in an 18-year-old man who presented with a 2-year history of progressive worsening of scalp folds, recurrent acne, hyperhidrosis, and seborrhea consistent with Touraine-Solente-Gole syndrome. (A) Brain MRI scan obtained without contrast material shows scalp hypertrophy (scalp “petals” sign, arrow), and (B) left leg radiograph shows periostitis of the tibial and fibular shafts (arrows).Download as PowerPointOpen in Image Viewer Touraine-Solente-Gole syndrome is a rare hereditary disease that is characterized by pachydermia, periostosis, and digital clubbing (1). The radiologic scalp “petals” sign is consistent with clinical cutis verticis gyrata. The differential diagnosis of pachydermia includes cutis laxa, Ehlers-Danlos syndrome, Meretoja syndrome, Marfan syndrome, and pseudoxanthoma elasticum (2). Given the central role of prostaglandin E2 in the pathogenesis of Touraine-Solente-Gole syndrome, nonsteroidal anti-inflammatory drugs are often used as the first line of treatment.Disclosures of conflicts of interest: Q.W. No relevant relationships. L.C. No relevant relationships.* Q.W. and L.C. contributed equally to this work.

Sarcoidosis in North Indian Population: A Retrospective Study

Sarcoidosis is a systemic granulomatous disease of unknown origin most commonly involving the lungs. Sarcoidosis is frequently misdiagnosed due to its clinico-radiological resemblance to tuberculosis (TB). Hence, the present study was undertaken with the aim of studying the clinico-radiological profile of sarcoidosis in the Indian context. We retrospectively studied 146 patients diagnosed to have sarcoidosis during the period 2001-2010 at one of the respiratory units at Vallabhbhai Patel Chest Institute. Majority of them (70%) were more than 40 years of age; females comprised 58.2% of the patients. Before coming to our clinic, 30% patients had been misdiagnosed to have TB. Cough (89.7%) was the most common presenting symptom; joint symptoms (28.8%) and end inspiratory crepitations at lung bases (49.3%) were other salient manifestations. Cutaneous involvement and digital clubbing were rarely seen. Pulmonary function testing showed restriction with impaired diffusion in 72.7% patients. The most common radiological feature was bilaterally symmetrical hilar lymphadenopathy. Transbronchial lung biopsy (TBLB) had a very high diagnostic yield (90.8%). Sarcoidosis is often misdiagnosed as TB in India. Transbronchial lung biopsy has high diagnostic yield in sarcoidosis.

Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature

BackgroundNLRP3-associated autoinflammatory disease (NLRP3-AID), caused by mutations of NLRP3, is one of the autoinflammatory diseases affecting inflammasomes. Since there are little cases of Chinese NLRP3-AID, we reported 14 Chinese NLRP3-AID patients in our center and summarized the clinical features of all Chinese patients by reviewing the literature.ResultsFourteen patients had been diagnosed as NLRP3-AID in our center. 12 different NLRP3 variants were identified, among which one is novel: p.Leu361Trp. Rash, recurrent fever, arthritis/arthralgia, uveitis, sensorineural deafness, symptoms of central neural systems (CNS), and increased inflammatory markers (including CRP, ESR, except Ferritin) were the common findings in Chinese patients. The frequencies of fever, neurological symptoms, musculoskeletal manifestations and ocular manifestations in Chinese patients might differ from that of patients from other regions. Besides, we also found clubbing fingers and optic neuritis in some NLRP3-AID patients, which were not commonly mentioned in previous reports.ConclusionIn our study, we expanded the clinical spectrum as well as the genetic pathogenic variants of NLRP3-AID. We also found that there were some differences between Chinese patients and patients from other regions, and that Chinese patients were more likely to develop severe symptoms.

Acute chest syndrome and pulmonary hypertension in sickle cell diseases

Background: Sickle cell diseases (SCD) are severe inflammatory processes on vascular endothelium, particularly at the capillary level since the capillary system is the main distributor of hardened red blood cells (RBC) into tissues. Methods: All patients with the SCD were included. Results: The study included 222 males and 212 females with similar mean ages (30.8 versus 30.3 years, p&gt;0.05, respectively). Smoking (23.8% versus 6.1%, p&lt;0.001), alcohol (4.9% versus 0.4%, p&lt;0.001), disseminated teeth losses (5.4% versus 1.4%, p&lt;0.001), ileus (7.2% versus 1.4%, p&lt;0.001), cirrhosis (8.1% versus 1.8%, p&lt;0.001), leg ulcers (19.8% versus 7.0%, p&lt;0.001), digital clubbing (14.8% versus 6.6%, p&lt;0.001), coronary heart disease (CHD) (18.0% versus 13.2%, p&lt;0.05), chronic renal disease (CRD) (9.9% versus 6.1%, p&lt;0.05), chronic obstructive pulmonary disease (COPD) (25.2% versus 7.0%, p&lt;0.001), and stroke (12.1% versus 7.5%, p&lt;0.05) were higher in males but not acute chest syndrome (ACS) (2.7% versus 3.7%), pulmonary hypertension (PHT) (12.6% versus 11.7), and deep venous thrombosis and/or varices and/or telangiectasias (9.0% versus 6.6%), significantly (p&gt;0.05 for all). Mean ages of ACS and PHT were 30.3 and 34.0 years (p&lt;0.05), respectively. Conclusion: Although smoking, alcohol, disseminated teeth losses, ileus, cirrhosis, leg ulcers, digital clubbing, CHD, CRD, COPD, and stroke-like atherosclerotic events were higher in males, and the male sex alone is a risk factor for atherosclerosis, ACS and PHT were similar in both genders, and mean age of PHT is much higher than ACS, significantly. In other words, PHT may have a hardened RBC-induced chronic, whereas ACS an acute thromboembolic background, in the SCD. Key words: Sickle cell diseases, acute chest syndrome, pulmonary hypertension, thromboembolism, chronic endothelial damage, atherosclerosis, metabolic syndrome

Investigation of clinical predictors of survival in idiopathic pulmonary fibrosis patients: A cohort study in Taiwan.

Two antifibrotic medications, pirfenidone and nintedanib, have been approved as treatments for idiopathic pulmonary fibrosis (IPF)-a life-threatening interstitial lung disease. However, there are insufficient current data regarding clinical predictors of survival for patients with IPF in the era of antifibrotics. We retrospectively analyzed the medical records of patients with IPF treated between April 2017 and May 2020. Univariate and multivariate Cox proportional hazard models were used to identify independent predictors of mortality among these patients with IPF. A total of 40 patients with IPF (average age, 75.58 ± 8.34 years) were included in the study, 27 (67.5%) of whom were treated with antifibrotic drugs. In the entire cohort, 14 (35%) patients died, and the overall survival of the study population was 48.52 ± 5 months (median, not applicable [NA] [29-NA] months). The univariate and multivariate Cox proportional hazard models indicated that chest tightness, finger clubbing, acute exacerbation after medication, decreased percentage forced vital capacity (%FVC), and decreased percentage 1-second forced expiratory volume were clinical factors linked to all-cause mortality among all patients, although without statistical significance at the multivariate level. Meanwhile, only finger clubbing was a significant mortality predictor among patients who received antifibrotic medications. A mortality scoring system was built upon the aforementioned risk factors, with the exclusion of %FVC, whose individual mortality score was nearly zero. Chest tightness, finger clubbing, acute exacerbation after medication, and decreased %FVC were clinical factors associated with mortality in patients with IPF, although without statistical significance. A scoring system including these factors can be used to predict all-cause mortality in patients with IPF. The mere intake of antifibrotic medications was not a significant mortality predictor in this study. This might be owed to the retrospective nature of the study, where many patients started the medications after the deterioration of their pulmonary function rather than from the start.

Digital clubbing as a result of metastatic lung cancer.

Digital clubbing as a result of metastatic lung cancer.

Clinical example of surgical treatment of arteriovenous malformation in right thoracoscopic lobectomy

Pulmonary arteriovenous malformations are a rare congenital pathology observed in 2–3 individuals per 10,000, and 10 % of cases are diagnosed in children in the first several years of life. Arteriovenous malformations are vascular abnormalities of the cardiovascular system presenting as pathological anastomoses (shunts) between the arterial and venous systems which leads to direct shunting of nonoxygenated blood from the arterial bed into the venous bed bypassing pulmonary capillary network. Frequently, diagnosis of pulmonary arteriovenous malformations is made in rather neglected cases. Pulmonary arteriovenous malformations is hard to diagnose and treat, therefore it requires special attention from surgeons and clinicians which prompted us to describe a clinical case of a young 27-year old male patient with signs of significant chronic hypoxia (saturation (SpO2 ) – 84–86 %, hemoglobin level – 185 g/L, erythrocyte count – 6.13 million/μL, hematocrit – 51.8 %; during examination: acrocyanosis, nail clubbing; complaints of vertigo, decreased tolerance of physical activity, breathlessness during physical activity). Computed tomography in the S8, S9 segments showed arteriovenous malformation, size about 70 × 70 mm. Patient underwent radical treatment in the form of right lower thoracoscopic lobectomy which led to an immediate increase in oxygen saturation (SpO2 ) to 99 %. This clinical example shows that surgical method of treatment is the most radical, and thoracoscopic intervention in a young patient significantly decreases the volume of injury and promotes quick recovery and return to active life.

Pulmonary hypertension and chronic obstructive pulmonary disease in sickle cell diseases

Background: Pulmonary hypertension (PHT) is a common consequence of chronic obstructive pulmonary disease (COPD). Methods: All patients with sickle cell diseases (SCD) were included. Results: The study included 434 patients (212 females) with similar mean ages in males and females (30.8 versus 30.3 years, p&gt;0.05, respectively). Smoking (23.8% versus 6.1%, p&lt;0.001), alcohol (4.9% versus 0.4%, p&lt;0.001), disseminated teeth losses (&lt;20 teeth present) (5.4% versus 1.4%, p&lt;0.001), ileus (7.2% versus 1.4%, p&lt;0.001), cirrhosis (8.1% versus 1.8%, p&lt;0.001), leg ulcers (19.8% versus 7.0%, p&lt;0.001), digital clubbing (14.8% versus 6.6%, p&lt;0.001), coronary heart disease (CHD) (18.0% versus 13.2%, p&lt;0.05), chronic renal disease (CRD) (9.9% versus 6.1%, p&lt;0.05), stroke (12.1% versus 7.5%, p&lt;0.05), and COPD (25.2% versus 7.0%, p&lt;0.001) were higher but not PHT (12.6% versus 11.7, p&gt;0.05) and deep venous thrombosis (DVT) and/or varices and/or telangiectasias (9.0% versus 6.6%, p&gt;0.05) in males. Conclusion: SCD are severe inflammatory processes on vascular endothelium, particularly at the capillary level since the capillary system is the main distributor of hardened red blood cells (RBC) into tissues. Although smoking, alcohol, disseminated teeth losses, ileus, cirrhosis, leg ulcers, digital clubbing, CHD, CRD, stroke, and COPD-like atherosclerotic events were higher in males, PHT and DVT and/or varices and/or telangiectasias were similar in both genders. Similarly, although the male gender alone is a risk factor for the systemic atherosclerosis, the similar prevalence of PHT in both genders also supports its nonatherosclerotic nature. In another definition, COPD may have an atherosclerotic whereas PHT a hardened RBC-induced chronic thromboembolic background in the SCD. Key words: Sickle cell diseases, pulmonary hypertension, chronic obstructive pulmonary disease, endothelial damage, atherosclerosis, metabolic syndrome, aging

Unilateral digital clubbing in hemiplegia due to a putaminal hemorrhage.

Digital clubbing usually occurs bilaterally; however, unilateral clubbing can be seen in hemiplegia and local vascular lesions. We highlight a case of unilateral digital clubbing due to putaminal hemorrhage. Further accumulation of cases will enable exploration of the mechanisms of clubbing.

Autoimmune Pulmonary Alveolar Proteinosis.

Autoimmune pulmonary alveolar proteinosis (PAP) is a rare disease characterized by myeloid cell dysfunction, abnormal pulmonary surfactant accumulation, and innate immune deficiency. It has a prevalence of 7-10 per million; occurs in individuals of all races, geographic regions, sex, and socioeconomic status; and accounts for 90% of all patients with PAP syndrome. The most common presentation is dyspnea of insidious onset with or without cough, production of scant white and frothy sputum, and diffuse radiographic infiltrates in a previously healthy adult, but it can also occur in children as young as 3 years. Digital clubbing, fever, and hemoptysis are not typical, and the latter two indicate that intercurrent infection may be present. Low prevalence and nonspecific clinical, radiological, and laboratory findings commonly lead to misdiagnosis as pneumonia and substantially delay an accurate diagnosis. The clinical course, although variable, usually includes progressive hypoxemic respiratory insufficiency and, in some patients, secondary infections, pulmonary fibrosis, respiratory failure, and death. Two decades of research have raised autoimmune PAP from obscurity to a paradigm of molecular pathogenesis-based diagnostic and therapeutic development. Pathogenesis is driven by GM-CSF (granulocyte/macrophage colony-stimulating factor) autoantibodies, which are present at high concentrations in blood and tissues and form the basis of an accurate, commercially available diagnostic blood test with sensitivity and specificity of 100%. Although whole-lung lavage remains the first-line therapy, inhaled GM-CSF is a promising pharmacotherapeutic approach demonstrated in well-controlled trials to be safe, well tolerated, and efficacious. Research has established GM-CSF as a pulmonary regulatory molecule critical to surfactant homeostasis, alveolar stability, lung function, and host defense.

A Case of Elephant Extremities in a Filipino Male: Primary Familial Pachydermoperiostosis

This is a rare case of primary pachydermoperiostosis (PDP). A 28-year-old Filipino male presented with a lifelong history of enlarged hands and feet. He eventually developed symmetrical swelling of the ankles and knees associated with leg heaviness and knee pain with difficulty with ambulation, hence consult. His eldest brother also had the same “elephant-like” extremities. He had cutis vertices gyrata with a thickened corrugated hair pattern, deep lines on the forehead, deepened nasolabial folds, enlarged extremities especially distally, with coarse, thick skin, and prominent clubbing. The nails were convex “watch crystal-like.” The wrists, knees, and ankles were tender and enlarged, with massive effusion of the knees. All joints were devoid of warmth and erythema.&#x0D; Skeletal survey favored hypertrophic osteoarthropathy over acromegaly, with periosteal thickening of the metaphysis and digital clubbing. The filarial smear was negative for blood parasites. Skin biopsy showed keratoderma. Synovial fluid was non-inflammatory while arthroscopic synovial biopsy showed chronic inflammation eosinophilic amorphous tissue. Electrocardiogram, echocardiogram, thyroid function tests, complete blood count, peripheral blood smear, serum chemistries, coagulation tests, urinalysis, urine electrolytes, fecalysis, and chest CT scan were unremarkable. Whole abdomen ultrasound revealed the liver parenchymal disease. Hepatitis profile revealed chronic infection with hepatitis B, with low infectivity. The three major criteria for PDP (pachydermia, periostitis, and digital clubbing) were fulfilled. Possible secondary causes were either excluded or were non-contributory.&#x0D; He was started on analgesics and anti-inflammatory medicines. Repeated arthrocenteses drained liters of synovial fluid per knee, and along with intra-articular steroid injections and compressive bandages, temporarily relieved his bilateral knee pain. He was referred to rehabilitation to maximize his range of motion and to address body image issues. The patient remains on regular follow-up for periodic arthrocentesis. The option of anti-VEGF treatment and arthrotomy was explored as possibilities but were not deemed practical.&#x0D; PDP is a rare genodermatosis. Life span is not affected but the quality of life is dismal without supportive management, as there is no known cure. A multidisciplinary team composed of a rheumatologist, dermatologist, orthopedic surgeon, plastic surgeon, rehabilitation physician, and a psychiatrist should be available to assist in the needs of these patients.

Nail involvement in autosomal recessive congenital ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous category of nonsyndromic ichthyosis. Nail changes in ARCI are generally frequent but have been rarely reported and studied in the literature. This stimulated us to conduct a study to describe nail changes in ARCI using a combined literature review and prospective examination from March 2019 to August 2019 (6 months) in the Dermatology Department of Habib Thameur Hospital, Tunis, Tunisia. A total of 25 patients with ARCI had a clinical and dermatoscopic review. The mean age was 19.8 years (range, 1-43), with a female predominance (17 women [68%] and 8 men [32%]). Seventy-two percent had nail unit changes involving more than one nail, none had single nail disease, 64% had involvement of fingernails, and 68% had involvement of toenails, with cases including periungual hyperkeratosis (64%), xanthonychia (40%), pachyonychia (40%), macrolunula (36%), digital clubbing (32%), and onychomycosis (24%). Rarer findings included pseudoainhum, transverse leukonychia, longitudinal melanonychia, and subungual hemorrhages, each in one patient (4%). There was a statistically significant increased frequency of nail changes in adults over children (P = .001). Nail abnormalities statistically associated with ARCI were macrolunula, periungual hyperkeratosis, xanthonychia, and pachyonychia. A comprehensive review of the literature was performed, creating the first comprehensive review addressing nail disease in ARCI.

POEMS Syndrome: a clinical challenge / Síndrome de POEMS: um desafio clínico

A 42-year-old male patient admitted to our service with a history of progressive and symmetrical weakness, paresthesia of the lower limbs, weight loss and urinary retention for about 8 months. Physical examination demonstrated poor general condition, lower limb edema, hepatomegaly and digital clubbing. Neurological examination showed a polyneuropathic pattern, with hypoesthesia and absence of deep reflexes of the lower limbs. Initial laboratory investigation demonstrated erythrocytosis and thyroid and adrenal dysfunction in addition to hypergammaglobulinemia. CSF analysis, due to the clinical suspicion of chronic inflammatory demyelinating polyneuropathy, resulted in protein-cytological dissociation. PIDC was hypothesized to be due to light-chain disease, but for this association we supplemented with bone marrow analysis and whole-body CT scan, which showed 4% atypia in plasma cells and osteolytic and osteoblastic lesions in the vertebro-costal region between the 8th and 9th vertebrae. Subsequent biopsy confirmed plasmacytoma. He performed autologous bone marrow transplantation, but evolved with infectious complications and died within 3 months.

Epidemiology of Digital Clubbing and Hypertrophic Osteoarthropathy: A Systematic Review and Meta-analysis.

Digital clubbing and hypertrophic osteoarthropathy (HOA) are long-standing clinical entities, but their prevalence have not been synthesized. We aimed to estimate the prevalence of digital clubbing and HOA in people with existing medical conditions.We comprehensively searched PubMed, Embase, and Web of Science to select studies addressing HOA or digital clubbing and published through March 23, 2021. Summary estimates of the prevalence were derived through random-effects meta-analysis and narrative synthesis. The review protocol has been registered with PROSPERO, CRD42021243934.Of 3973 records, we included 142 studies. In adults, the pooled prevalence of digital clubbing was 33.4% (95% confidence interval [CI], 16.6-52.8), 31.3% (95% CI, 22.4-41.1), 27% (95% CI, 9.4-49.5), and 22.8% (95% CI, 10.8-37.6) in subjects with intestinal diseases, interstitial lung diseases, infective endocarditis, and hepatic diseases, respectively. In children and adolescents, the pooled prevalence of digital clubbing was 29.1% (95% CI, 19.4-39.9), 23% (95% CI, 9.0-41.1), 19.5% (95% CI, 4.1-42.4), and 17.1% (95% CI, 9.5-26.5) in subjects with human immunodeficiency virus infection, hemoglobinopathies, cystic fibrosis, and tuberculosis. The pooled prevalence of HOA was 10.1% (95% CI, 2.0-23.1) in adults with cancers, and 5% (95% CI, 2.5-8.2) in children and adolescents with cystic fibrosis.In conclusion, the prevalence of digital clubbing varied across disease groups in both adults and children. Full-spectrum HOA was mostly reported in adults with liver disease and cancers, and in children and adolescents with cystic fibrosis.

A Retransplant Case for Hepatopulmonary Syndrome Without Liver Cirrhosis or Portosystemic Shunt After Living-Donor Liver Transplantation: A Case Report

Hepatopulmonary syndrome (HPS) is a disease of gas exchange caused by intrapulmonary shunting secondary to liver disease-associated intrapulmonary vascular dilation. HPS is characterized by the triad of cirrhosis, chronic liver disease, or portosystemic shunting (PSS); arterial hypoxemia; and intrapulmonary arteriovenous shunting in the absence of a primary cardiopulmonary anomaly. We encountered a rare case of HPS without liver disease or PSS. The patient was an 8-year-old girl who underwent living donor liver transplantation (LDLT) shortly after developing fulminant hepatitis at 11 months of her age. Eight years after LDLT, hypoxemia and shortness of breath developed. The shunt ratio on 99mTc-macroaggregated albumin (MAA) lung perfusion scintigraphy (99mTc-MAA lung scan) was 32%. The patient had no cardiopulmonary disease, so we diagnosed her illness as HPS. We did not find cirrhosis, chronic liver disease, or PSS as a cause of HPS. We thought the graft was the cause of HPS. A second transplantation was planned. One year after the diagnosis of HPS, the shunt ratio on 99mTc-MAA lung scan worsened to 42%, digital clubbing appeared, and hypoxemia was worsening. Thus, we performed a second LDLT. After LDLT the shunt ratio on 99mTc-MAA lung scan normalized (6%) and cyanosis resolved. We determined that the graft was the cause of HPS; the typical causes of HPS were not clearly revealed in the histologic examination of the second liver explant. Acute rejection occurred twice after LDLT, so we speculated that HPS occurred because the graft became stressed over the long term.